Mutagenetix > Incidental Mutation

Incidental Mutation 'R7356:Hltf'

570934

Institutional Source

Beutler Lab

Gene Symbol

Hltf

Ensembl Gene

ENSMUSG00000002428

Gene Name

helicase-like transcription factor

Synonyms

Snf2l3, Smarca3, P113

MMRRC Submission

045442-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20111975-20172654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20163534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 888 (I888T)

Ref Sequence

ENSEMBL: ENSMUSP00000002502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002502] [ENSMUST00000143005] [ENSMUST00000145853]

AlphaFold

Q6PCN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002502
AA Change: I888T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002502
Gene: ENSMUSG00000002428
AA Change: I888T

Domain	Start	End	E-Value	Type
HIRAN	60	154	3.78e-29	SMART
DEXDc	236	608	1.26e-32	SMART
RING	754	794	4.41e-6	SMART
low complexity region	814	828	N/A	INTRINSIC
HELICc	859	944	2.24e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143005

SMART Domains

Protein: ENSMUSP00000116570
Gene: ENSMUSG00000002428

Domain	Start	End	E-Value	Type
HIRAN	60	154	3.78e-29	SMART
DEXDc	236	610	2.36e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145853

SMART Domains

Protein: ENSMUSP00000118775
Gene: ENSMUSG00000002428

Domain	Start	End	E-Value	Type
HIRAN	1	92	2.7e-25	SMART
DEXDc	174	548	2.36e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, spongiform encephalopathy with increased brain apoptosis, and hypoglycemia. Mice homozygous for a different knock-out allele fail to show fluoxetine-induced neurogenesis and behavioral responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	T	4: 49,383,507 (GRCm39)	D15E	probably damaging	Het
Adamts16	G	A	13: 70,984,399 (GRCm39)	T88I	probably benign	Het
Akap6	A	C	12: 52,958,647 (GRCm39)	N801H	probably damaging	Het
Ankfn1	G	T	11: 89,325,599 (GRCm39)	N524K	probably damaging	Het
Ap5s1	A	G	2: 131,054,582 (GRCm39)	N131S	probably damaging	Het
Astn2	A	T	4: 66,103,503 (GRCm39)	D303E	unknown	Het
Babam1	T	C	8: 71,852,208 (GRCm39)	V132A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GGTCACTGGTTCTGT	GGTCACTGGTTCTGTAGTCACTGGTTCTGT	3: 95,795,477 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,795,470 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	3: 95,795,453 (GRCm39)		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTCCTGTGGTCACTGGT	3: 95,795,487 (GRCm39)		probably benign	Het
BC028528	CACTGGTT	CACTGGTTCTATGGTGACTGGTT	3: 95,795,495 (GRCm39)		probably benign	Het
Cnst	C	T	1: 179,434,095 (GRCm39)	P304S	probably benign	Het
Cog4	A	T	8: 111,576,498 (GRCm39)		probably null	Het
Cyp2j13	A	T	4: 95,965,655 (GRCm39)	H17Q	probably benign	Het
Dock6	G	A	9: 21,721,195 (GRCm39)	T1662I	probably damaging	Het
Dysf	T	C	6: 84,044,443 (GRCm39)	F270S	probably damaging	Het
Erbb4	A	G	1: 68,378,514 (GRCm39)		probably null	Het
Fam120b	A	T	17: 15,627,958 (GRCm39)	Q550L	probably benign	Het
Fam83b	A	T	9: 76,400,135 (GRCm39)	F323I	probably benign	Het
Far1	T	A	7: 113,167,349 (GRCm39)	I478N	possibly damaging	Het
Gdpd5	T	A	7: 99,108,085 (GRCm39)	I554N	probably damaging	Het
Glrx3	T	C	7: 137,054,453 (GRCm39)	S79P	probably damaging	Het
Hpx	A	G	7: 105,240,917 (GRCm39)	V452A	probably damaging	Het
Itk	T	G	11: 46,258,659 (GRCm39)	Q81P	possibly damaging	Het
Kdm6b	G	A	11: 69,292,991 (GRCm39)	Q1262*	probably null	Het
Lpcat2	T	C	8: 93,591,611 (GRCm39)	V85A	probably benign	Het
Lrrk2	A	T	15: 91,622,947 (GRCm39)	H1039L	probably benign	Het
Mapk3	T	C	7: 126,360,087 (GRCm39)		probably null	Het
Masp1	A	T	16: 23,288,993 (GRCm39)	N602K	possibly damaging	Het
Myo7a	T	A	7: 97,751,890 (GRCm39)	Q40L	probably benign	Het
Nek1	A	T	8: 61,573,994 (GRCm39)	M1081L	probably benign	Het
Nes	T	C	3: 87,885,058 (GRCm39)	S1106P	possibly damaging	Het
Nkpd1	A	T	7: 19,257,699 (GRCm39)	I493F	probably damaging	Het
Npsr1	C	G	9: 24,009,557 (GRCm39)	S21C	probably benign	Het
Oog1	G	A	12: 87,653,047 (GRCm39)		probably null	Het
Or11g1	G	A	14: 50,651,159 (GRCm39)	V53M	probably damaging	Het
Or5g24-ps1	G	A	2: 85,463,782 (GRCm39)	R3K	probably benign	Het
Or5k8	A	T	16: 58,644,718 (GRCm39)	M118K	probably damaging	Het
Osbpl9	G	T	4: 108,925,677 (GRCm39)	Y340*	probably null	Het
Pcyox1l	A	T	18: 61,840,621 (GRCm39)	L11Q	probably null	Het
Pdxdc1	G	A	16: 13,677,867 (GRCm39)	R255C	probably damaging	Het
Pgap1	A	G	1: 54,569,293 (GRCm39)	S358P	probably benign	Het
Pgm2l1	A	G	7: 99,917,326 (GRCm39)	Y481C	possibly damaging	Het
Plekhf1	T	C	7: 37,921,545 (GRCm39)	T8A	possibly damaging	Het
Plg	G	T	17: 12,629,798 (GRCm39)	G611C	probably damaging	Het
Prf1	A	C	10: 61,139,059 (GRCm39)	D339A	possibly damaging	Het
Prph	A	G	15: 98,954,807 (GRCm39)	Y291C	probably damaging	Het
Rasal1	A	G	5: 120,792,890 (GRCm39)	S48G	possibly damaging	Het
Rigi	A	G	4: 40,226,600 (GRCm39)	S231P	probably benign	Het
Ripk4	T	A	16: 97,544,349 (GRCm39)	Q766L	probably damaging	Het
Scaf1	T	C	7: 44,657,208 (GRCm39)	D557G	unknown	Het
Scaper	A	T	9: 55,799,495 (GRCm39)	M190K	unknown	Het
Scn8a	A	T	15: 100,855,460 (GRCm39)	I202F	probably damaging	Het
Siglecf	A	G	7: 43,005,855 (GRCm39)	I505V	probably benign	Het
Sirpb1c	A	G	3: 15,886,297 (GRCm39)	S360P	probably benign	Het
Sla2	C	A	2: 156,720,623 (GRCm39)		probably null	Het
Slc11a1	G	T	1: 74,424,648 (GRCm39)	V544L	probably benign	Het
Slco1a5	T	A	6: 142,180,458 (GRCm39)	K648I	probably benign	Het
Sorcs1	T	A	19: 50,163,595 (GRCm39)	I1020F	possibly damaging	Het
Spen	C	A	4: 141,199,235 (GRCm39)	E3131*	probably null	Het
Sult2a7	A	T	7: 14,211,031 (GRCm39)	W162R	probably damaging	Het
Sult3a1	G	A	10: 33,742,579 (GRCm39)	E69K	probably benign	Het
Tcof1	G	T	18: 60,951,166 (GRCm39)	D1119E	unknown	Het
Tom1l2	A	T	11: 60,139,853 (GRCm39)	I272K	probably damaging	Het
Tspan5	C	T	3: 138,448,193 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,698,244 (GRCm39)	L186P		Het
Uap1l1	T	C	2: 25,251,696 (GRCm39)	E496G	possibly damaging	Het
Ube2v1	A	T	2: 167,451,115 (GRCm39)	I117N	possibly damaging	Het
Usp42	A	G	5: 143,702,842 (GRCm39)	V593A	possibly damaging	Het
Virma	T	A	4: 11,513,595 (GRCm39)	I483N	probably damaging	Het
Vwde	T	A	6: 13,192,641 (GRCm39)	I421F	probably damaging	Het
Zfp345	G	A	2: 150,314,209 (GRCm39)	H443Y	probably damaging	Het
Zfp760	A	G	17: 21,941,601 (GRCm39)	T259A	probably benign	Het
Zfp941	T	C	7: 140,392,028 (GRCm39)	I444V	possibly damaging	Het
Zfyve9	A	C	4: 108,576,212 (GRCm39)	S290A	probably benign	Het

Other mutations in Hltf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Hltf	APN	3	20,159,796 (GRCm39)	splice site	probably benign
IGL01461:Hltf	APN	3	20,154,103 (GRCm39)	nonsense	probably null
IGL01630:Hltf	APN	3	20,137,068 (GRCm39)	splice site	probably benign
IGL01704:Hltf	APN	3	20,137,910 (GRCm39)	splice site	probably benign
IGL02059:Hltf	APN	3	20,160,621 (GRCm39)	missense	probably benign
IGL02105:Hltf	APN	3	20,146,921 (GRCm39)	missense	probably damaging	1.00
IGL02156:Hltf	APN	3	20,146,971 (GRCm39)	missense	possibly damaging	0.61
IGL02870:Hltf	APN	3	20,154,037 (GRCm39)	missense	probably damaging	0.98
IGL02899:Hltf	APN	3	20,153,981 (GRCm39)	missense	probably damaging	1.00
IGL02935:Hltf	APN	3	20,123,215 (GRCm39)	missense	probably damaging	1.00
IGL02950:Hltf	APN	3	20,130,736 (GRCm39)	missense	probably benign	0.07
IGL03082:Hltf	APN	3	20,118,723 (GRCm39)	splice site	probably benign
snarky	UTSW	3	20,163,651 (GRCm39)	critical splice donor site	probably null
R0068:Hltf	UTSW	3	20,113,254 (GRCm39)	missense	probably damaging	1.00
R0787:Hltf	UTSW	3	20,160,610 (GRCm39)	missense	probably damaging	1.00
R0905:Hltf	UTSW	3	20,163,033 (GRCm39)	critical splice donor site	probably null
R0980:Hltf	UTSW	3	20,145,665 (GRCm39)	missense	probably benign	0.00
R1741:Hltf	UTSW	3	20,140,352 (GRCm39)	missense	probably damaging	1.00
R1748:Hltf	UTSW	3	20,130,685 (GRCm39)	missense	probably benign	0.13
R1799:Hltf	UTSW	3	20,159,855 (GRCm39)	missense	probably damaging	1.00
R1976:Hltf	UTSW	3	20,160,610 (GRCm39)	missense	probably damaging	1.00
R2171:Hltf	UTSW	3	20,113,245 (GRCm39)	missense	probably damaging	1.00
R2395:Hltf	UTSW	3	20,146,906 (GRCm39)	missense	probably benign	0.41
R2444:Hltf	UTSW	3	20,118,071 (GRCm39)	missense	possibly damaging	0.66
R3789:Hltf	UTSW	3	20,123,211 (GRCm39)	missense	probably damaging	1.00
R3943:Hltf	UTSW	3	20,146,908 (GRCm39)	missense	probably damaging	1.00
R4719:Hltf	UTSW	3	20,118,865 (GRCm39)	critical splice donor site	probably null
R4793:Hltf	UTSW	3	20,118,114 (GRCm39)	missense	possibly damaging	0.79
R5296:Hltf	UTSW	3	20,162,276 (GRCm39)	missense	probably damaging	0.99
R5449:Hltf	UTSW	3	20,123,247 (GRCm39)	missense	possibly damaging	0.92
R5492:Hltf	UTSW	3	20,152,231 (GRCm39)	splice site	probably null
R6012:Hltf	UTSW	3	20,113,098 (GRCm39)	missense	probably damaging	1.00
R6157:Hltf	UTSW	3	20,130,660 (GRCm39)	missense	probably benign	0.13
R6254:Hltf	UTSW	3	20,117,993 (GRCm39)	missense	possibly damaging	0.85
R6553:Hltf	UTSW	3	20,126,558 (GRCm39)	missense	probably damaging	0.96
R6616:Hltf	UTSW	3	20,163,651 (GRCm39)	critical splice donor site	probably null
R6696:Hltf	UTSW	3	20,119,470 (GRCm39)	splice site	probably null
R6761:Hltf	UTSW	3	20,137,996 (GRCm39)	critical splice donor site	probably null
R6781:Hltf	UTSW	3	20,152,330 (GRCm39)	missense	probably benign	0.00
R7241:Hltf	UTSW	3	20,119,556 (GRCm39)	missense	probably benign	0.07
R7453:Hltf	UTSW	3	20,136,916 (GRCm39)	missense	possibly damaging	0.81
R7765:Hltf	UTSW	3	20,145,647 (GRCm39)	missense	probably benign	0.02
R7978:Hltf	UTSW	3	20,146,968 (GRCm39)	missense	probably damaging	1.00
R8299:Hltf	UTSW	3	20,136,986 (GRCm39)	missense	possibly damaging	0.73
R8547:Hltf	UTSW	3	20,152,291 (GRCm39)	missense	probably damaging	1.00
R8857:Hltf	UTSW	3	20,159,825 (GRCm39)	missense	probably damaging	0.98
R8859:Hltf	UTSW	3	20,119,566 (GRCm39)	nonsense	probably null
R8926:Hltf	UTSW	3	20,123,323 (GRCm39)	critical splice donor site	probably null
R8959:Hltf	UTSW	3	20,136,936 (GRCm39)	missense	probably damaging	1.00
R9052:Hltf	UTSW	3	20,152,246 (GRCm39)	missense	probably damaging	1.00
R9214:Hltf	UTSW	3	20,140,280 (GRCm39)	missense	probably benign	0.01
R9405:Hltf	UTSW	3	20,137,094 (GRCm39)	missense	possibly damaging	0.88
R9565:Hltf	UTSW	3	20,136,996 (GRCm39)	critical splice donor site	probably null
X0027:Hltf	UTSW	3	20,121,553 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAGGGCCTTGAGTTTGACTG -3'
(R):5'- ACAGTTGGAATCACAGAACCG -3'

Sequencing Primer
(F):5'- TGACTGATCTTTAGTACCACAGG -3'
(R):5'- AGGCACCTCTCAAACAGGTTTTG -3'

Posted On

2019-09-13